[Biochemical and clinical studies of 2 new Italian cases of Hb G-Ferrara heterozygosis]

Boll Soc Ital Biol Sper. 1979 May 30;55(10):967-73.
[Article in Italian]

Abstract

The Authors report the data concerning a family coming from Ficarolo (Rovigo). The father and one son were found hematologically healthy, but resulted carriers of Hb G-Ferrara. This is an unstable rare pigment with a replacement in the beta 57 (E-1) helicoidal position. The type and site of the mutation explain the "in vitro" molecular instability; on the other hand, this latter doesn't seem to cause any hematological disorder, even if an increased met-Hb production was found when affected blood was incubated at 37 degrees C for two hours in sterile conditions.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Blood Protein Electrophoresis
  • Child
  • Chromatography, Paper
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Italy
  • Male
  • Mutation

Substances

  • Hemoglobins, Abnormal